CYP11B1基因c.1157C>T纯合突变导致11β-羟化酶缺陷症临床及家系分析  

An pedigree and clinical analysis of 11β-hydroxylase deficiency resulted from homozygous mutation in CYP11B1 gene

作　　者：易如海[1] 赵淑好[1] 颜晓芳[1] 江震[1] 杨立勇[1] YI Ru-hai;ZHAO Shu-hao;YAN Xiao-fang;JIANG Zhen;YANG Li-yong(Endocrinology Department,The First Affiliated Hospital of Fujian Medical University Diabetes Research Institute of Fujian Province,Fujian Fuzhou 350005)

机构地区：[1]福建医科大学附属第一医院内分泌科,福建省糖尿病防治研究院,福建福州350005

出　　处：《中华高血压杂志》2020年第10期941-946,共6页Chinese Journal of Hypertension

摘　　要：目的分析11β-羟化酶缺陷症患者1例的临床特征及其家系的细胞色素P450家族成员11B1(CYP11B1)基因突变情况。方法收集患者临床资料和相关实验室检查结果,采用PCR和直接测序法检测患者CYP11B1全基因序列及其7名家系成员的可疑突变位点。结果患者,女,25岁,临床症状复杂,表现为高血压、心功能不全、肾功能衰竭、肺部感染。查体:身高151 cm,唇上小须,阴蒂肥大。实验室检查:17-羟孕酮、脱氢表雄酮、促肾上腺皮质激素(ACTH)均升高,皮质醇、血钾降低,中剂量地塞米松抑制试验阳性,CT示双侧肾上腺增粗。基因检测发现CYP11B1基因第7号外显子处c.1157C>T(p.Ala386Val)纯合突变,患者的父母、外婆和小姨均为该突变携带者。结论本家系患者是由CYP11B基因c.1157C>T(p.Ala386Val)突变所致11β-羟化酶缺陷症。Objective To analyze the clinical features and the mutation of CYP11B1 gene in a family with 11β-hydroxylase deficiency.Methods The clinical and laboratory tests data of the patient were collected.The complete sequences of CYP11B1 gene in the proband and the potential mutation in other seven family members were analyzed by polymerase chain reaction(PCR)and direct sequencing technique.Results A twenty-five-year female patient showed complicated clinical symptoms,comprising hypertension,heart failure,renal failure and pulmonary infections.Laboratory results indicated the increase of 17α-hydoxy progesterone,dehydroepiandrosterone(DHS)and adrenocorticotropic hormone(ACTH),while the decrease of cortical and potassium in serum.Meanwhile,a positive reaction in mid-dose dexamethasone suppression test and a significant enlargement of bilateral adrenal glands from CT scan were exhibited in this patient.Furthermore,a homozygous c.1157 C>T(p.Ala386 Val)in exon 7 of the CYP11B1 gene was identified in this patient.Four family members(father,mother,maternal grandmother and aunt of proband)were heterozygous of the same mutation.Conclusion 11β-hydroxylase deficiency in this patient is caused by homozygous c.1157 C>T(p.Ala386 Val)in the CYP11B1 gene.

关 键 词：11β-羟化酶缺陷症 先天性肾上腺皮质增生症 CYP11B1基因 

分 类 号：R586[医药卫生—内分泌]